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Öğe 46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report(Galenos Yayincilik, 2022) Ciftci, Nurdan; Kayas, Leman; Camtosun, Emine; Akinci, AysehanThe enzyme 17-beta-hydroxysteroid dehydrogenase type 3 (17 beta-HSD3) catalyzes the biosynthesis of testosterone (T) from Delta 4-androstenedione, and plays an important role in the final steps of androgen synthesis. 17 beta-HSD3 deficiency originates from mutations in the HSD17B gene, causing an autosomal recessive 46,XY sex developmental disorder (DSD). Patients with 46,XY karyotype can exhibit a wide phenotypic spectrum, varying from complete external female genitalia to male genitalia with hypospadias. Here we report a case of 17 beta-HSD3 deficiency diagnosed in the infantile period who was later found to have a novel HSD17B3 gene variation. The 14-month old patient, who exhibited a female phenotype, presented with a bilateral lump in the inguinal area. Imaging revealed bilateral testicular gonads in the inguinal area. Hormonal evaluation showed low levels of basal and stimulated serum T, a high level of androstenedione (A), and a low T/A ratio. Chromosomal analysis showed 46,XY karyotype. Sequence analysis of the HSD17B3 gene revealed a c.673_1G>C homozygous class 2 (splice site) variation in intron 9. The consanguineous parents were sequenced, and both were heterozygous for the same mutation. This variation has not been previously reported in the literature. In conclusion, a 46,XY DSD should be considered in patients with a female phenotype who exhibit gonad(s) in the inguinal area at an early age. Furthermore, in patients with insufficient T synthesis and high levels of androstenedione, 17 beta-HSD3 should be considered, and molecular analysis should be done for a definitive diagnosis and subsequent genetic counseling.Öğe Assessment of Clinical Asthma Score and Asthma Severity Score in Preschool Children with Recurrent Wheezing(Bilimsel Tip Yayinevi, 2021) Ciftci, Nurdan; Vezir, Emine; Alioglu, BulentObjective: There is no definitive consensus on asthma exacerbation scoring for preschool children with recurrent wheezing. The Clinical Asthma Score (CAS) and Asthma Severity Score (ASS) are two scoring systems that can be used in this population. The aim of this study was to evaluate the relationship between CAS and ASS, acute treatment, and exacerbation outcomes in preschool children with wheezing. Materials and Methods: The study included 70 patients aged 2-5 years who presented to the pediatric emergency department due to an acute wheezing episode. CAS and ASS were evaluated at exacerbation presentation and after initial salbutamol therapy. Results: Presenting scores were significantly higher among patients who had three or more episodes within the last year (p=0.01 for CAS, p=0.019 for ASS). Presenting scores were significantly higher in patients treated with systemic steroid therapy during the episode compared to those who were not (p=0.006 for CAS; p=0.003 for ASS). CAS and ASS predicted the use of acute steroid therapy with a sensitivity of 73.7% and 52.6%, and predicted hospitalization with a sensitivity of 95% and 82.5%, respectively. Conclusion: Our data suggest that these scoring systems can be used to judge the need for systemic steroid therapy and that high scores are associated with greater likelihood of hospital admission.Öğe Chronic Disease Management of Children Followed with Type 1 Diabetes Mellitus(Galenos Publ House, 2023) Baysal, Senay Gueven; Ciftci, Nurdan; Duendar, Ismail; Bueyuekavci, Mehmet Akif; Yagin, Fatma Hilal; Camtosun, Emine; Dogan, Derya GuemuesObjective: With the diagnosis of chronic illness in children, a stressful period is likely to begin for both the affected child and their families. The aim of this study was to investigate the factors affecting chronic disease management by the parents of children diagnosed with type 1 diabetes mellitus (T1DM).Methods: The sample consisted of 110 children, aged between 4-17 years and their mothers. The patients had been diagnosed with T1DM for at least one year, and had attended pediatric endocrinology outpatients or were hospitalized in a single center. First, sociodemographic information about the child with T1DM were obtained. Then, the Family Management Measure (FaMM) was applied. The FaMM is constructed to measure family functioning and management in families who have a child with a chronic illness.Results: Paternal years of education (p=0.036), family income (p=0.008), insulin pump use (p=0.011), and time elapsed after diagnosis (p=0.048) positively affected both the management of T1DM and the child's daily life. However, presence of chronic diseases in addition to T1DM (p=0.004) negatively affected diabetes management. Higher maternal education year (p=0.013) and family income level (p=0.001) increased parental mutuality scores. However, as the time after diagnosis increased, parental mutuality scores decreased.Conclusion: It is important to evaluate the child with chronic disease with a biopsychosocial approach. This approach aims to evaluate the problems of the child and his/her family who experience the disease with a holistic approach.Öğe Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism(Galenos Publ House, 2023) Ciftci, Nurdan; Akinci, Aysehan; Akbulut, Ekrem; Camtosun, Emine; Dundar, Ismail; Dogan, Mustafa; Kayas, LemanObjective: Idiopathic hypogonadotropic hypogonadism (IHH) is classified into two groups-Kalman syndrome and normosmic IHH (nIHH). Half of all cases can be explained by mutations in >50 genes. Targeted gene panel testing with nexrt generation sequencing (NGS) is required for patients without typical phenotypic findings. The aim was to determine the genetic etiologies of patients with IHH using NGS, including 54 IHH-associated genes, and to present protein homology modeling and protein stability analyzes of the detected variations.Methods: Clinical and demographic data of 16 patients (eight female), aged between 11.6-17.8 years, from different families were assessed. All patients were followed up for a diagnosis of nIHH, had normal cranial imaging, were without anterior pituitary hormone deficiency other than gonadotropins, had no sex chromosome anomaly, had no additional disease, and underwent genetic analysis with NGS between the years 2008-2021. Rare variants were classified according to the variant interpretation framework of the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology. Changes in protein structure caused by variations were modeled using RoseTTAFold and changes in protein stability resulting from variation were analyzed.Results: Half of the 16 had no detectable variation. Three (18.75%) had a homozygous (pathogenic) variant in the GNRHR gene, one (6.25%) had a compound heterozygous [likely pathogenic-variants of uncertain significance (VUS)] variant in PROK2 and four (25%) each had a heterozygous (VUS) variant in HESX1, FGF8, FLRT3 and DMXL2. Protein models showed that variants interpreted as VUS according to ACMG could account for the clinical IHH.Conclusion: The frequency of variation detection was similar to the literature. Modelling showed that the variant in five different genes, interpreted as VUS according to ACMG, could explain the clinical IHH.Öğe Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism (vol 15, pg 160, 2023)(Galenos Publ House, 2023) Ciftci, Nurdan; Akinci, Aysehan; Akbulut, Ekrem; Camtosun, Emine; Dundar, Ismail; Dogan, Mustafa; Kayas, Leman[Abstract Not Available]Öğe Etiological, clinical, and laboratory evaluation of congenital hypothyroidism and determination of levothyroxine (LT4) dose at treatment interruption in differentiating permanent vs. transient patients(Tubitak Scientific & Technological Research Council Turkey, 2022) Dundar, Ismail; Buyukavci, Mehmet Akif; Ciftci, NurdanBackground/aim: Congenital hypothyroidism (CH) is the most common cause of preventable but irreversible mental retardation in children, although the risk has been widely abolished by national neonatal screening programs. The aim of this study was to determine, (a) the cause of CH, (b) the etiological cause of persistent CH and (c) to investigate the role of laboratory and clinical data in predicting persistent and transient CH. Materials and methods: Patients diagnosed with CH, who started L-thyroxine treatment and were followed up for at least three years were included. Patient data were reviewed retrospectively. Serum thyroid hormones were measured four weeks after discontinuation of therapy at age three or earlier. Cases with a thyroid-stimulating hormone (TSH) value of >10 mIU/mL were accepted as permanent hypothyroidism, while cases with normal TSH values for six months after cessation were accepted as transient hypothyroidism. Results: There were 232 treated cases, of whom 108 (46.6%) were female, and 169 (72.8%) were eventually diagnosed with transient CH. The best cut-off point for predicting permanent status was determined as LT4 cut-off dose >= 1.45 mcg/kg/day. The median (range) duration of L-thyroxine treatment in transient hypothyroid cases was 24 (range: 6-36) months, and treatment was discontinued before the age of three years in 64%. Conclusion: It has been shown that the most common etiologic cause of CH is transient hypothyroidism. The thyroxine dose at the time of discontinuation of treatment and free thyroxine and TSH levels at the time of diagnosis are essential determinants in distinguishing permanent/transient CH.Öğe Evaluation of Salivary Glands by Ultrasonography and Inflammatory Markers in Children with Autoimmune Thyroiditis(Galenos Publ House, 2023) Tasolar, Sevgi Demiroz; Sigirci, Ahmet; Ciftci, Nurdan; Cengiz, Aslinur; Dogan, Gulec Mert; Akinci, AysehanIntroduction: Although more common in adults, autoimmune thyroiditis (AT) is one of the most common thyroid diseases in children and adolescents. Salivary gland involvement has been described in many studies of patients with AT. Several inflammatory scores are used to assess the inflammatory status of patients with systemic autoimmune diseases. We aimed to sonographically evaluate the parotid and submandibular salivary glands with inflammatory parameters in patients with AT in our study. Methods: Our study population consisted of 37 consecutive pediatric AT patients and 29 healthy control subjects. Ultrasonographic and laboratory evaluations of the study population were performed. Jamovi and MedCalc software were used to analyze the data. Results: The volume of the thyroid gland in the patients was significantly higher than that in the control group (p=0.030), while there was no difference in the volume of the salivary glands. Multiple logistic regression analysis was planned to assess the predictability of salivary gland involvement in patients with the disease. Both systemic immune-inflammation index (SII) and pan-immune inflammation value (PIV) were found to be predictors of salivary gland involvement in AT patients. Conclusion: We found that both SII and PIV inflammatory markers are predictive of salivary gland parenchymal changes in patients with AT, and SII is likely to be more valuable than PIV at this time.Öğe Liraglutide Treatment in a Morbidly Obese Adolescent with a MC4R Gene Variant: Side Effects Reduce Success(Galenos Publ House, 2023) Camtosun, Emine; Akinci, Ehan; Kayas, Leman; Ciftci, Nurdan; Tekedereli, IbrahimVariants of the melanocortin-4 receptor (MC4R) gene are the most common cause of monogenic obesity. It has been shown that, while obesity cannot be controlled with diet and exercise, glucagon-like-peptide-1 receptor agonists (GLP-1 RA) provide weight loss in the short term. In this paper, our experience with liraglutide treatment in an adolescent patient carrying a MC4R gene variant is presented. A female patient was admitted first at the age of 12.5 years with a complaint of progressive weight gain. She had marked excess of appetite since infancy. On physical examination of the pubertal female patient with a body mass index (BMI) of 36.1 kg/m(2) (3.48 standard deviation score), there was no pathological finding except diffuse acanthosis nigricans. Laboratory examinations revealed only insulin resistance. Weight loss was not achieved with lifestyle changes, metformin and orlistat treatments. On genetic examination, a sporadic heterozygous c.206T > G(p.I69R) variant that had been reported previously, was found in MC4R gene. Treatment with the GLP-1 RA, liraglutide, was initiated and a 19.2% reduction was achieved in the body weight and BMI at the end of 32 weeks. However, the patient, whose treatment compliance was disrupted due to significant gastrointestinal complaints, returned to her former weight within a few months (13 weeks) after treatment was stopped. In this case with a known pathogenic variant in MC4R gene, decrease of appetite and weight loss were achieved with liraglutide treatment, but side-effects of this treatment led to discontinuation of therapy. In such cases, there is need for effective and tolerable treatment options.Öğe Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience(Galenos Yayincilik, 2021) Camtosun, Emine; Dundar, Ismail; Akinci, Aysehan; Kayas, Leman; Ciftci, NurdanObjective: Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. In childhood, PAI is usually caused by monogenic diseases. Although congenital adrenal hyperplasia (CAH) is the most common cause of childhood PAI, numerous non-CAH genetic causes have also been identified. Methods: Patients aged 0-18 years and diagnosed with PAI between 1998 and 2019 in a tertiary care hospital were retrospectively evaluated. After the etiologic distribution was determined, non-CAH PAI patients were evaluated in detail. Results: Seventy-three PAI patients were identified. The most common etiology was CAH (69.9%, n=51). Non-CAH etiologies accounted for 30.1% (n=22) and included adrenoleukodystrophy (ALD; n=8), familial glucocorticoid deficiency (n=3), Triple A syndrome (n=5), autoimmune adrenalitis (n=1), adrenal hypoplasia congenital (n=1), IMAGe syndrome (n=1), and other unknown etiologies (n=3). The median age at the time of AI diagnosis for non-CAH etiologies was 3.52 (0.03-15.17) years. The most frequent symptoms/clinical findings at onset were hyperpigmentation of skin (81.8%), symptoms of hypoglycemia (40.9%), and weakness/fatigue (31.8%). Hypoglycemia (50.0%), hyponatremia (36.4%) and hyperkalemia (22.7%) were prominent biochemical findings. Diagnosis of specific etiologies were proven genetically in 13 of 22 patients. A novel p.Q301* hemizygous frameshift mutation of the DAX1 gene was identified in one patient. Conclusion: Etiology was determined in 86.3% of children with non-CAH PAI through specific clinical and laboratory findings with/without molecular analysis of candidate genes. ALD was the most common etiology. Currently, advanced molecular analysis can be utilized to establish a specific genetic diagnosis for PAI in patients who have no specific diagnostic features.Öğe Presentation, diagnosis and follow-up characteristics of 17?-hydroxylase deficiency cases with exon 1-6 deletion (founder mutation) in the CYP17A1 gene: 20-years single-center experience(Karger, 2023) Dundar, Ismail; Akinci, Aysehan; Camtosun, Emine; Ciftci, Nurdan; Kayas, LemanContext: 17 alpha-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol synthesis, as well as an increased mineralocorticoid effect.Aim: This study aimed to evaluate the clinical, biochemical, and molecular characteristics of patients with 17OHD and to discuss the diagnosis, treatment, and follow-up process. Methods: Age, symptoms, anthropometric measurements, blood pressure, and hormonal, biochemical, and chromosomal analysis results of 13 patients diagnosed with 17OHD between 2003 and 2022 were recorded at admission and during follow-up. Whole gene next-generation sequencing was performed for the CYP17A1 gene. Multiplex ligation-dependent probe amplification was used to detect deletions in patients without point mutations in CYP17A1.Results: The median age at diagnosis was 14.0 (3.5-16.8) years. Nine of 13 (69.2%) had 46,XY karyotypes. All patients were phenotypically female and were raised as girls. The most common reasons for admission were the absence of puberty and amenorrhea (n=8, 61.5%), followed by hypertension (n=3, 23.0%) and family screening (n=2, 15.3%). At the time of diagnosis, hypertension was detected in 10 (76.9%) patients, and 11 (84.6%) patients had hypokalemia.Conclusions: 17OHD should be considered in patients with pubertal delay/primary amenorrhea, hypertension, and hypokalemia. Adrenal function should be included in the clinical study of hypergonadotropic hypogonadism, after excluding Turner syndrome, in all 46,XX females. Deletion in the CYP17A1, including exons 1-6, is the founder mutation for Turkey's East and Southeast regions.Öğe Serum kisspeptin, neurokinin B and inhibin B levels can be used as alternative parameters to distinguish idiopathic CPP from premature thelarche in the early stages of puberty(Wiley, 2023) Vuralli, Dogus; Ciftci, Nurdan; Demirbilek, HuseyinObjectiveThere is controversial results about serum kisspeptin, neurokinin-B (NKB), anti-Mullerian hormone (AMH) and inhibin B (INHB) levels in girls with central precocious puberty (CPP). Aim of this study is to evaluate serum levels of these four peptides in patients presented with early pubertal signs, and to evaluate their diagnostic validity in the diagnosis of CPP. DesignCross-sectional study. PatientsStudy included 99 girls (51 CPP, 48 premature thelarche [PT]) whose breast development started before 8 years and 42 age-matched healthy prepubertal girls. Clinical findings, antropometric measurements, laboratory and radiological findings were recorded. Gonadotropin-releasing hormone (GnRH) stimulation test was performed in all cases with early breast development. MeasurementsKisspeptin, NKB, INHB and AMH levels were measured in fasting serum samples using enzyme-linked immunosorbent assay method. ResultsThere was no statistically significant difference between mean ages of girls with CPP (7.1 +/- 1.2 years), PT (7.2 +/- 1.3 years) and prepubertal controls (7.0 +/- 1.0 years). Serum kisspeptin, NKB and INHB levels were higher in CPP group compared to PT and control groups, while serum AMH level was lower in CPP group. Serum kisspeptin, NKB, and INHB were all positively correlated with bone age (BA) advancement, and peak luteinizing hormone in GnRH test. Multiple stepwise regression analysis revealed that the most important factors used to differentiate CPP from PT were advanced BA, serum kisspeptin, NKB and INHB levels (AUC: 0.819, p < .001). ConclusionsWe, first showed in the same patients' group that serum kisspeptin, NKB and INHB were higher in patients with CPP and can be used as alternative parameters to distinguish CPP from PT.Öğe Serum kisspeptin, neurokinin B and inhibin B levels can be used as an auxiliary parameter to distinguish idiopathic CPP from premature thelarche in the early stages of puberty(Karger, 2022) Vuralli, Dogus; Ciftci, Nurdan; Demirbilek, Huseyin[Abstract Not Available]Öğe Trend in initial presenting features of type 1 diabetes mellitus over a 24 year period in Turkey: a retrospective analysis of 814 cases(Turkish J Pediatrics, 2022) Dundar, Ismail; Akinci, Aysehan; Camtosun, Emine; Ciftci, Nurdan; Kayas, Leman; Nalbantoglu, OzlemBackground. The study aim was to examine changes in trends of presenting features during the diagnosis of patients followed up with newly diagnosed Type 1 diabetes mellitus (T1DM) over the past 24 years. Methods. The study was retrospective. Patients with a diagnosis of T1D between the years of 1996-2019 were included. Patients diagnosed in the first half of the period comprised Period I, and those from the second half comprised Period II. Patient data were extracted from medical records and included gender distribution, year of diagnosis, age at diagnosis, duration of symptoms, type of admission, frequency of diabetic ketoacidosis (DKA) and biochemical parameters. Subsequently, temporal changes in trends of these parameters were sought. Results. For the whole cohort the gender distribution was equal; 404 (49.6%) were girls and 410 (50.4%) were boys. Mean age at diagnosis was 8.5 +/- 4.2 years and age groupings at presentation were: 23.2% (n = 189) aged 0-4; 39.2% (n = 319) aged 5-9; 27.5% (n = 224) aged 10-13; 10.1% (n= 82) aged 14-18. At presentation 72 (12.7%) had hyperglycemia, 230 (40.6%) had diabetic ketosis, and 264 (46.6%) had DKA. In those with DKA, mild DKA was found in 103 (39.0%), moderate DKA in 81 (30.6%), and severe DKA in 80 (30.3%). While the frequency of DKA was 54.9% between 1996 and 2007 (Period I), this significantly decreased to 44.4% between 2008 and 2019 (Period II). Girls and boys had a similar rate of T1DM, and this did not change over time. Three peak ages of diagnosis were evident; 5-7, 8-10, 12-14 years of age. Conclusions. The frequency of DKA decreased and the frequency of admission with hyperglycemia and ketosis increased during the study period, which may have repercussions for mortality and morbidity rates and aid in improved treatment outcomes.Öğe Type 1 Diabetes Incidence Trends in a Cohort of Turkish Children and Youth(Aves, 2023) Dundar, Ismail; Akinci, Aysehan; Camtosun, Emine; Kayas, Leman; Ciftci, Nurdan; Ozcetin, ErdenerObjective: The aim was to analyze the incidence trend and annual average incidence change of type 1 diabetes (T1DM) in the population <18 years of age in Malatya province. Materials and Methods: Medical files of patients followed up with T1DM in pediatric endocrinology clinics were reviewed. The data for the child census was taken from the Turkish Statistical Institute (TUIK), and T1DM incidence was analyzed according to the calendar year, gender, and age groups. Recently diagnosed T1DM patients per 100 000 children per year were calculated. In addition, the trend in annual incidence change over the period 2007-2019 was analyzed. Results: The mean incidence of T1DM during the 13 years was 13.1/105 child years (13.8/105 child years for girls and 12.4/105 child years for boys). During the 13-year follow-up period, a significant increasing trend in the incidence of T1DM was detected. The average annual percent change (AAPC) was 8.3%. According to age groups, the average AAPC was 8.1% between 0 and 4 years old, 9.4% between 5 and 9 years old, 12.1% between 10 and 14 years old, and 30.1% between 15 and 17 years old. Conclusion: The incidence of T1DM in children under 18 years of age in Malatya, one of the largest cities in the Eastern Anatolia region of Turkey, was determined as 13.1/105 child years in the last 13 years and the average annual increase rate was 8.3%.
